Our ServicesBioinformatics

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Raw data obtained from Illumina NextSeq500 and MiSeq devices in our laboratories are converted into meaningful data through our own in-house pipelines in accordance with current standards and specifications to the studies.

Our Bioinformatics Services;
  • Mapping reference genomes and evaluation of variants (SNP/indel)

“The high-resolution sequence data obtained from the Illumina NextSeq 500 is first aligned with the reference genome data through the BWA-mem algorithm and then the variant calling file is obtained by using GATK (GATK is a variety of tools developed by the Broad Institute) tools through the calculation of base quality scores (BAMQC and FASTQC) and improvement.  The obtained variant file is anodized and meaningful variation data is obtained by using Annovar, SnpEff, VEP databases, and tools. Frequencies of each variant are recorded in the file with MAF, ExAc, and Gnomad allele frequency databases. This data file also contains and specifies disease-associated variations in databases such as OMIM, Clinvar, and Cosmic.”

  • Gene expression analysis
  • Differential expression analysis of new and reference transcripts
  • Alignment of small RNAs to the reference database
  • Advanced microbiome data analysis for 16S (V3-V4, V4, V4-V5), 18S, and ITS samples
    “QIIME”
  • Metagenome data analysis – taxonomic labeling to DNA sequences
  • De novo genome and transcriptome analysis
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You can contact us for detailed information regarding the test…

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ServicesAll Our Services

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Genetic counseling is the process of acquiring information on genetic disorders.
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